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TCTN3 tectonic family member 3 [ Homo sapiens (human) ]

Gene ID: 26123, updated on 2-Nov-2024

Summary

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Official Symbol
TCTN3provided by HGNC
Official Full Name
tectonic family member 3provided by HGNC
Primary source
HGNC:HGNC:24519
See related
Ensembl:ENSG00000119977 MIM:613847; AllianceGenome:HGNC:24519
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OFD4; TECT3; JBTS18; C10orf61
Summary
This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
Expression
Ubiquitous expression in thyroid (RPKM 49.4), ovary (RPKM 15.6) and 25 other tissues See more
Orthologs
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Genomic context

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See TCTN3 in Genome Data Viewer
Location:
10q24.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (95663401..95693927, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (96542501..96573034, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (97423158..97453684, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3716 Neighboring gene RPS3A pseudogene 36 Neighboring gene aldehyde dehydrogenase 18 family member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3801 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:97454143-97454644 Neighboring gene MPRA-validated peak1056 silencer Neighboring gene ectonucleoside triphosphate diphosphohydrolase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2650 Neighboring gene ENTPD1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3811 Neighboring gene Sharpr-MPRA regulatory region 13404 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:97645298-97645457 Neighboring gene MPRA-validated peak1059 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3814 Neighboring gene coiled-coil and C2 domain containing 2B Neighboring gene ribosomal protein L21 pseudogene 90

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV. Hussain S, et al. Ann Hum Genet, 2022 Nov. PMID 36039988, Free PMC Article
  2. TCTN3 mutations cause Mohr-Majewski syndrome. Thomas S, et al. Am J Hum Genet, 2012 Aug 10. PMID 22883145, Free PMC Article
  3. Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly. Chen HX, et al. J Cell Mol Med, 2020 Dec. PMID 33098376, Free PMC Article
  4. Identification of novel regulators of apoptosis using a high-throughput cell-based screen. Park KM, et al. Mol Cells, 2007 Apr 30. PMID 17464193
  5. Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. Reiter JF, et al. Genes Dev, 2006 Jan 1. PMID 16357211, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
    Title: A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
  2. Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.
    Title: Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.
  3. TCTN3 mutations cause Mohr-Majewski syndrome.
    Title: TCTN3 mutations cause Mohr-Majewski syndrome.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial aplasia of the vermis
MedGen: C0431399 GeneReviews: Joubert Syndrome
not available
Joubert syndrome 18
MedGen: C3553758 OMIM: 614815 GeneReviews: Joubert Syndrome
not available
Orofacial-digital syndrome IV
MedGen: C0406727 OMIM: 258860 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp564D116

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in ciliary membrane TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tectonic-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032953.1 RefSeqGene

    Range
    5217..35743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143973.2 → NP_001137445.1  tectonic-3 isoform b precursor

    See identical proteins and their annotated locations for NP_001137445.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks four alternate exons in the mid coding region, compared to variant 1, which results in the loss of two in-frame segments. The resulting isoform (b) is shorter than isoform a.
    Source sequence(s)
    AI375376, AK299141, BI561516
    Consensus CDS
    CCDS44461.1
    UniProtKB/TrEMBL
    A0A7P0TA64
    Related
    ENSP00000387567.1, ENST00000430368.6
    Conserved Domains (1) summary
    pfam07773
    Location:90 → 242
    DUF1619; Protein of unknown function (DUF1619)

  2. NM_001410982.1 → NP_001397911.1  tectonic-3 isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    AL356632
    Consensus CDS
    CCDS91309.1
    UniProtKB/TrEMBL
    A0A7P0TB57
    Related
    ENSP00000506398.1, ENST00000680144.1

  3. NM_015631.6 → NP_056446.4  tectonic-3 isoform a precursor

    See identical proteins and their annotated locations for NP_056446.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC068449, CN427798
    Consensus CDS
    CCDS31258.2
    UniProtKB/Swiss-Prot
    A6NIC8, B0QZ90, B4DR81, Q6NUS6, Q6P7P3, Q6UW27, Q6ZQQ0, Q8N7K1, Q8NBQ0, Q96GF7, Q9Y3U1
    UniProtKB/TrEMBL
    A0A0C4DFN5
    Related
    ENSP00000360261.5, ENST00000371217.10
    Conserved Domains (1) summary
    pfam07773
    Location:90 → 390
    DUF1619; Protein of unknown function (DUF1619)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    95663401..95693927 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425042.1 → XP_047280998.1  tectonic-3 isoform X5

  2. XM_005269690.3 → XP_005269747.2  tectonic-3 isoform X2

  3. XM_047425041.1 → XP_047280997.1  tectonic-3 isoform X4

  4. XM_011539627.3 → XP_011537929.2  tectonic-3 isoform X1

    Related
    ENSP00000483364.2, ENST00000614499.5

  5. XM_011539628.3 → XP_011537930.2  tectonic-3 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    96542501..96573034 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365526.1 → XP_054221501.1  tectonic-3 isoform X5

  2. XM_054365523.1 → XP_054221498.1  tectonic-3 isoform X2

  3. XM_054365525.1 → XP_054221500.1  tectonic-3 isoform X4

  4. XM_054365522.1 → XP_054221497.1  tectonic-3 isoform X1

  5. XM_054365524.1 → XP_054221499.1  tectonic-3 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6NUS6.2 GenPept UniProtKB/Swiss-Prot:Q6NUS6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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